Down Syndrome, Intellectual Disability
Conditions
Brief summary
Analyze genetic and biological markers in patients with Intellectual Deficiencies (ID) of genetic origin in order to better understand the mechanisms of modified genes, cellular mechanisms, pathways involved in different disorders , complications and pathologies associated with ID of genetic origin.
Detailed description
Blood and skin samples will be taken from patients coming at the outpatients clinic of the Institut Jérôme Lejeune and who consent to participate to the study. Search and identification of markers will be then done from the collected samples.
Interventions
OTHERBiological samplings
Blood and/or skin samples
Sponsors
Institut Jerome Lejeune
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Patient diagnosed with an intellectual disability of genetic origin * Patient of all ages coming for consultation at the Institut Jérôme Lejeune * Patient whose parents or legal representative have received and understood the information document and signed the informed consent for a sample for the research project. * Patient affiliated to a social security scheme
Exclusion criteria
* Parents unable to find out about the constraints related to the study * Refusal of informed patient participation * Pregnant, parturient and nursing mothers * Persons deprived of their liberty by judicial or administrative decision
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Identification of biomarkers in blood | 10 years | Analysis of biomarkers from blood samples taken during the visit |
| Identification of biomarkers from skin samples | 10 years | Analysis of biomarkers from skin samples taken during the visit |
Countries
France
Contacts
Primary ContactSophie Durand
Outcome results
None listed